4.5 Article

PCDH19-related epilepsy in two mosaic male patients

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Review Genetics & Heredity

A genomic view of mosaicism and human disease

Leslie G. Biesecker et al.

NATURE REVIEWS GENETICS (2013)

Review Multidisciplinary Sciences

Somatic Mutation, Genomic Variation, and Neurological Disease

Annapurna Poduri et al.

SCIENCE (2013)

Article Clinical Neurology

PCDH19 mutation in Japanese females with epilepsy

Norimichi Higurashi et al.

EPILEPSY RESEARCH (2012)

Article Clinical Neurology

Epilepsy and mental retardation limited to females: an under-recognized disorder

Ingrid E. Scheffer et al.

Article Genetics & Heredity

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

Leanne M. Dibbens et al.

NATURE GENETICS (2008)